Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients | Zendy

Andrea D. Praticò | Zendy; Piero Pavone | Zendy; Agata Polizzi | Zendy; MariaRoberta Longo | Zendy; Katia Romano | Zendy; Michele Vecchio | Zendy; Raffaele Falsaperla | Zendy

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Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients

Author(s) -

Andrea D. Praticò,

Piero Pavone,

Agata Polizzi,

MariaRoberta Longo,

Katia Romano,

Michele Vecchio,

Raffaele Falsaperla

Publication year - 2013

Publication title -

journal of pediatric neurosciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.247

H-Index - 18

eISSN - 1998-3948

pISSN - 1817-1745

DOI - 10.4103/1817-1745.111416

Subject(s) - medicine , ptosis , hypotonia , neuromuscular transmission , pyridostigmine , repetitive nerve stimulation , neuromuscular junction , congenital myasthenic syndrome , weakness , acetylcholine receptor , myasthenia gravis , muscle weakness , pediatrics , neuroscience , ophthalmology , surgery , receptor , biology

Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis.

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